Hereditary Hemorrhagic Telangiectasia (HHT) is a rare and genetic disease in which a disorder in angiogenesis exists. A new method for the molecular diagnosis of this disease has been developed. It is based on the quantification of a set of microRNAs (miRNAs) transported by plasma exosomes, and in addition, this set allows diagnosing different variants of the disease.
This new method has the advantage of providing new biomarkers that allow a rapid and reliable diagnosis of HHT, since the current methods are not valid for all the patients affected with HHT.
HHT is a rare disease (estimated prevalence is 1-5/10.000) with autosomal dominant inheritance that results in arteriovenous dilatations in skin, mucous membranes and internal organs, with propensity to hemorrhagic episodes.
The current diagnosis is clinical, but the diagnosis is often delayed due to the gradual onset of symptom. Thus, having a clinical suspicion, the confirmation test available is a mutational genetic analysis. However, the mutational study in the target genes described so far also fails to diagnose all patients (predominance of new mutations in affected individuals and difficulties in the detection of mutations in heterozygosis and in non-coding regions of DNA).
Given this problem, the present invention provides the use of new diagnostic biomarkers, based on the quantification of 8 microRNAs carried by plasma exosomes. These miRNAs provide useful data for the diagnosis of HHT and allow us to classify the disease in two subtypes: HHT1 and HHT2.
Another object of this invention is a kit to assess the expression level of miRNAs through different molecular biology techniques.
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Attachment CC: Herbert L. Fred, MD and Hendrik A. van Dijk [Attribution]
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